V122A (p.Val122Ala) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
V122A (p.Val122Ala) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
V122A (p.Val122Ala) variant details
- p.Val122Ala
- TOPMed rs930593950
- gnomAD rs930593950
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.51
- ESM-1b 0.00
- AlphaMissense 0.23
- MetaLR 0.26
- MetaSVM -0.52
- CADD 25.50
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available